ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.800+1G>A
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)

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